E12G (p.Glu12Gly) variant of VHL (P40337)
E12G (p.Glu12Gly) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
E12G (p.Glu12Gly) variant details
- p.Glu12Gly
- rs1380706798
- ClinGen CA351747137
- ClinVar RCV001364592
- ClinVar RCV004951619
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.08
- MetaLR 0.36
- MetaSVM -0.70
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.40
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)